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RecName: Full=Gap junction beta-5 protein; AltName: Full=Connexin-31.1; Short=Cx31.1

UniProtKB/Swiss-Prot: O95377.2

Identical Proteins FASTA Graphics 

LOCUS       CXB5_HUMAN               273 aa            linear   PRI 27-NOV-2024
DEFINITION  RecName: Full=Gap junction beta-5 protein; AltName:
            Full=Connexin-31.1; Short=Cx31.1.
ACCESSION   O95377
VERSION     O95377.2
DBSOURCE    UniProtKB: locus CXB5_HUMAN, accession O95377;
            class: standard.
            extra accessions:Q9UPA3
            created: Jul 15, 1999.
            sequence updated: Dec 1, 2000.
            annotation updated: Nov 27, 2024.
            xrefs: AF099731.1, AAC95472.1, AF052693.2, AAD18005.1, AL121988.10,
            BC004379.1, AAH04379.1, NP_005259.1, XP_005270808.1
            xrefs (non-sequence databases): CCDS:CCDS382.1, AlphaFoldDB:O95377,
            SMR:O95377, BioGRID:108974, IntAct:O95377, MINT:O95377,
            STRING:9606.ENSP00000340811, iPTMnet:O95377,
            PhosphoSitePlus:O95377, BioMuta:GJB5, MassIVE:O95377,
            PaxDb:9606-ENSP00000340811, PeptideAtlas:O95377,
            ProteomicsDB:50830, Antibodypedia:31495, DNASU:2709,
            Ensembl:ENST00000338513.1, Ensembl:ENSP00000340811.1,
            Ensembl:ENSG00000189280.3, GeneID:2709, KEGG:hsa:2709,
            MANE-Select:ENST00000338513.1, UCSC:uc001bxu.4, AGR:HGNC:4287,
            CTD:2709, DisGeNET:2709, GeneCards:GJB5, HGNC:4287,
            HPA:ENSG00000189280, MIM 604493, neXtProt:NX_O95377,
            OpenTargets:ENSG00000189280, PharmGKB:PA28698,
            VEuPathDB:HostDB:ENSG00000189280, eggNOG:ENOG502R3YE,
            GeneTree:ENSGT01030000234513, HOGENOM:CLU_037388_4_1_1,
            InParanoid:O95377, OMA:HSFYPKY, OrthoDB:5301774at2759,
            PhylomeDB:O95377, TreeFam:TF329606, PathwayCommons:O95377,
            Reactome:R-HSA-190861, SignaLink:O95377, BioGRID-ORCS:2709,
            GeneWiki:GJB5, GenomeRNAi:2709, Pharos:O95377, PRO:PR:O95377,
            Proteomes:UP000005640, RNAct:O95377, Bgee:ENSG00000189280,
            ExpressionAtlas:O95377, GO:0005922, GO:0005243, GO:0007267,
            GO:0008544, GO:1905867, GO:0060713, GO:0060708, GO:0060707,
            FunFam:1.20.1440.80:FF:000001, Gene3D:1.20.1440.80,
            InterPro:IPR000500, InterPro:IPR002271, InterPro:IPR019570,
            InterPro:IPR017990, InterPro:IPR013092, InterPro:IPR038359,
            PANTHER:PTHR11984, PANTHER:PTHR11984:SF29, Pfam:PF00029,
            PRINTS:PR00206, PRINTS:PR01141, SMART:SM00037, SMART:SM01089,
            PROSITE:PS00407, PROSITE:PS00408
KEYWORDS    Cell junction; Cell membrane; Gap junction; Membrane; Proteomics
            identification; Reference proteome; Transmembrane; Transmembrane
            helix.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 273)
  AUTHORS   Richard,G., Smith,L.E., Bailey,R.A., Itin,P., Hohl,D., Epstein,E.H.
            Jr., DiGiovanna,J.J., Compton,J.G. and Bale,S.J.
  TITLE     Mutations in the human connexin gene GJB3 cause erythrokeratodermia
            variabilis
  JOURNAL   Nat Genet 20 (4), 366-369 (1998)
   PUBMED   9843209
  REMARK    NUCLEOTIDE SEQUENCE [GENOMIC DNA].
REFERENCE   2  (residues 1 to 273)
  AUTHORS   Xia,J.-H., Liu,C.-Y., Zheng,D., Pan,Q. and Xie,W.
  TITLE     Direct Submission
  JOURNAL   Submitted (??-MAR-1999) to the EMBL/GenBank/DDBJ databases
  REMARK    NUCLEOTIDE SEQUENCE [MRNA].
REFERENCE   3  (residues 1 to 273)
  AUTHORS   Gregory,S.G., Barlow,K.F., McLay,K.E., Kaul,R., Swarbreck,D.,
            Dunham,A., Scott,C.E., Howe,K.L., Woodfine,K., Spencer,C.C.,
            Jones,M.C., Gillson,C., Searle,S., Zhou,Y., Kokocinski,F.,
            McDonald,L., Evans,R., Phillips,K., Atkinson,A., Cooper,R.,
            Jones,C., Hall,R.E., Andrews,T.D., Lloyd,C., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Anderson,F., Andrew,R.W., Ashwell,R.I.,
            Aubin,K., Babbage,A.K., Bagguley,C.L., Bailey,J., Beasley,H.,
            Bethel,G., Bird,C.P., Bray-Allen,S., Brown,J.Y., Brown,A.J.,
            Buckley,D., Burton,J., Bye,J., Carder,C., Chapman,J.C., Clark,S.Y.,
            Clarke,G., Clee,C., Cobley,V., Collier,R.E., Corby,N.,
            Coville,G.J., Davies,J., Deadman,R., Dunn,M., Earthrowl,M.,
            Ellington,A.G., Errington,H., Frankish,A., Frankland,J., French,L.,
            Garner,P., Garnett,J., Gay,L., Ghori,M.R., Gibson,R., Gilby,L.M.,
            Gillett,W., Glithero,R.J., Grafham,D.V., Griffiths,C.,
            Griffiths-Jones,S., Grocock,R., Hammond,S., Harrison,E.S., Hart,E.,
            Haugen,E., Heath,P.D., Holmes,S., Holt,K., Howden,P.J., Hunt,A.R.,
            Hunt,S.E., Hunter,G., Isherwood,J., James,R., Johnson,C.,
            Johnson,D., Joy,A., Kay,M., Kershaw,J.K., Kibukawa,M.,
            Kimberley,A.M., King,A., Knights,A.J., Lad,H., Laird,G., Lawlor,S.,
            Leongamornlert,D.A., Lloyd,D.M., Loveland,J., Lovell,J., Lush,M.J.,
            Lyne,R., Martin,S., Mashreghi-Mohammadi,M., Matthews,L.,
            Matthews,N.S., McLaren,S., Milne,S., Mistry,S., Moore,M.J.,
            Nickerson,T., O'Dell,C.N., Oliver,K., Palmeiri,A., Palmer,S.A.,
            Parker,A., Patel,D., Pearce,A.V., Peck,A.I., Pelan,S., Phelps,K.,
            Phillimore,B.J., Plumb,R., Rajan,J., Raymond,C., Rouse,G.,
            Saenphimmachak,C., Sehra,H.K., Sheridan,E., Shownkeen,R., Sims,S.,
            Skuce,C.D., Smith,M., Steward,C., Subramanian,S., Sycamore,N.,
            Tracey,A., Tromans,A., Van Helmond,Z., Wall,M., Wallis,J.M.,
            White,S., Whitehead,S.L., Wilkinson,J.E., Willey,D.L., Williams,H.,
            Wilming,L., Wray,P.W., Wu,Z., Coulson,A., Vaudin,M., Sulston,J.E.,
            Durbin,R., Hubbard,T., Wooster,R., Dunham,I., Carter,N.P.,
            McVean,G., Ross,M.T., Harrow,J., Olson,M.V., Beck,S., Rogers,J.,
            Bentley,D.R., Banerjee,R., Bryant,S.P., Burford,D.C., Burrill,W.D.,
            Clegg,S.M., Dhami,P., Dovey,O., Faulkner,L.M., Gribble,S.M.,
            Langford,C.F., Pandian,R.D., Porter,K.M. and Prigmore,E.
  TITLE     The DNA sequence and biological annotation of human chromosome 1
  JOURNAL   Nature 441 (7091), 315-321 (2006)
   PUBMED   16710414
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
            Erratum:[Nature. 2006 Oct 26;443(7114):1013. Banerjee, R [added];
            Bryant, SP [added]; Burford, DC [added]; Burrill, WDH [added];
            Clegg, SM [added]; Dhami, P [added]; Dovey, O [added]; Faulkner, LM
            [added]; Gribble, SM [added]; Langford, CF [added]; Pandian, RD
            [added]; Porter, KM [added]; Prigmore, E]
REFERENCE   4  (residues 1 to 273)
  AUTHORS   Gerhard,D.S., Wagner,L., Feingold,E.A., Shenmen,C.M., Grouse,L.H.,
            Schuler,G., Klein,S.L., Old,S., Rasooly,R., Good,P., Guyer,M.,
            Peck,A.M., Derge,J.G., Lipman,D., Collins,F.S., Jang,W., Sherry,S.,
            Feolo,M., Misquitta,L., Lee,E., Rotmistrovsky,K., Greenhut,S.F.,
            Schaefer,C.F., Buetow,K., Bonner,T.I., Haussler,D., Kent,J.,
            Kiekhaus,M., Furey,T., Brent,M., Prange,C., Schreiber,K.,
            Shapiro,N., Bhat,N.K., Hopkins,R.F., Hsie,F., Driscoll,T.,
            Soares,M.B., Casavant,T.L., Scheetz,T.E., Brown-stein,M.J.,
            Usdin,T.B., Toshiyuki,S., Carninci,P., Piao,Y., Dudekula,D.B.,
            Ko,M.S., Kawakami,K., Suzuki,Y., Sugano,S., Gruber,C.E.,
            Smith,M.R., Simmons,B., Moore,T., Waterman,R., Johnson,S.L.,
            Ruan,Y., Wei,C.L., Mathavan,S., Gunaratne,P.H., Wu,J., Garcia,A.M.,
            Hulyk,S.W., Fuh,E., Yuan,Y., Sneed,A., Kowis,C., Hodgson,A.,
            Muzny,D.M., McPherson,J., Gibbs,R.A., Fahey,J., Helton,E.,
            Ketteman,M., Madan,A., Rodrigues,S., Sanchez,A., Whiting,M.,
            Madari,A., Young,A.C., Wetherby,K.D., Granite,S.J., Kwong,P.N.,
            Brinkley,C.P., Pearson,R.L., Bouffard,G.G., Blakesly,R.W.,
            Green,E.D., Dickson,M.C., Rodriguez,A.C., Grimwood,J., Schmutz,J.,
            Myers,R.M., Butterfield,Y.S., Griffith,M., Griffith,O.L.,
            Krzywinski,M.I., Liao,N., Morin,R., Palmquist,D., Petrescu,A.S.,
            Skalska,U., Smailus,D.E., Stott,J.M., Schnerch,A., Schein,J.E.,
            Jones,S.J., Holt,R.A., Baross,A., Marra,M.A., Clifton,S.,
            Makowski,K.A., Bosak,S. and Malek,J.
  CONSRTM   MGC Project Team
  TITLE     The status, quality, and expansion of the NIH full-length cDNA
            project: the Mammalian Gene Collection (MGC)
  JOURNAL   Genome Res 14 (10B), 2121-2127 (2004)
   PUBMED   15489334
  REMARK    NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].;
            TISSUE=Pancreas
            Erratum:[Genome Res. 2006 Jun;16(6):804. Morrin, Ryan [corrected to
            Morin, Ryan]]
COMMENT     On Jul 6, 2000 this sequence version replaced gi:6014759.
            [FUNCTION] One gap junction consists of a cluster of closely packed
            pairs of transmembrane channels, the connexons, through which
            materials of low MW diffuse from one cell to a neighboring cell.
            [SUBUNIT] A connexon is composed of a hexamer of connexins.
            [INTERACTION] O95377; Q9BQE5: APOL2; NbExp=3; IntAct=EBI-3909454,
            EBI-4290634; O95377; O95236-2: APOL3; NbExp=3; IntAct=EBI-3909454,
            EBI-11976321; O95377; P29972: AQP1; NbExp=3; IntAct=EBI-3909454,
            EBI-745213; O95377; Q8WVX3-2: C4orf3; NbExp=3; IntAct=EBI-3909454,
            EBI-12003442; O95377; P21964: COMT; NbExp=3; IntAct=EBI-3909454,
            EBI-372265; O95377; Q4LDR2: CTXN3; NbExp=3; IntAct=EBI-3909454,
            EBI-12019274; O95377; O43169: CYB5B; NbExp=3; IntAct=EBI-3909454,
            EBI-1058710; O95377; Q9UKR5: ERG28; NbExp=3; IntAct=EBI-3909454,
            EBI-711490; O95377; Q92520: FAM3C; NbExp=3; IntAct=EBI-3909454,
            EBI-2876774; O95377; P24593: IGFBP5; NbExp=3; IntAct=EBI-3909454,
            EBI-720480; O95377; Q8N5M9: JAGN1; NbExp=3; IntAct=EBI-3909454,
            EBI-10266796; O95377; Q9UBY5: LPAR3; NbExp=3; IntAct=EBI-3909454,
            EBI-12033434; O95377; Q7Z4F1: LRP10; NbExp=3; IntAct=EBI-3909454,
            EBI-2830349; O95377; P30301: MIP; NbExp=3; IntAct=EBI-3909454,
            EBI-8449636; O95377; Q5J8X5: MS4A13; NbExp=3; IntAct=EBI-3909454,
            EBI-12070086; O95377; Q9H115: NAPB; NbExp=3; IntAct=EBI-3909454,
            EBI-3921185; O95377; Q9UHJ9-5: PGAP2; NbExp=3; IntAct=EBI-3909454,
            EBI-12092917; O95377; Q5VZY2: PLPP4; NbExp=3; IntAct=EBI-3909454,
            EBI-10485931; O95377; Q8IY26: PLPP6; NbExp=3; IntAct=EBI-3909454,
            EBI-11721828; O95377; P54315: PNLIPRP1; NbExp=3;
            IntAct=EBI-3909454, EBI-8652812; O95377; Q9NS64: RPRM; NbExp=3;
            IntAct=EBI-3909454, EBI-1052363; O95377; Q5QGT7: RTP2; NbExp=3;
            IntAct=EBI-3909454, EBI-10244780; O95377; Q96IW7: SEC22A; NbExp=3;
            IntAct=EBI-3909454, EBI-8652744; O95377; O75396: SEC22B; NbExp=3;
            IntAct=EBI-3909454, EBI-1058865; O95377; Q9Y6X1: SERP1; NbExp=3;
            IntAct=EBI-3909454, EBI-10329948; O95377; Q9BRI3: SLC30A2; NbExp=3;
            IntAct=EBI-3909454, EBI-8644112; O95377; Q9NVC3: SLC38A7; NbExp=3;
            IntAct=EBI-3909454, EBI-10314552; O95377; Q8IVJ1: SLC41A1; NbExp=3;
            IntAct=EBI-3909454, EBI-12266234; O95377; Q96JW4: SLC41A2; NbExp=3;
            IntAct=EBI-3909454, EBI-10290130; O95377; B2RUZ4: SMIM1; NbExp=3;
            IntAct=EBI-3909454, EBI-12188413; O95377; P48230: TM4SF4; NbExp=3;
            IntAct=EBI-3909454, EBI-8650934; O95377; Q5BJH2-2: TMEM128;
            NbExp=3; IntAct=EBI-3909454, EBI-10694905; O95377; Q9H2L4: TMEM60;
            NbExp=3; IntAct=EBI-3909454, EBI-2852148; O95377; Q8N2M4: TMEM86A;
            NbExp=3; IntAct=EBI-3909454, EBI-12015604; O95377; Q5BJF2: TMEM97;
            NbExp=3; IntAct=EBI-3909454, EBI-12111910; O95377; Q5TGU0: TSPO2;
            NbExp=3; IntAct=EBI-3909454, EBI-12195249; O95377; Q6UX27-3: VSTM1;
            NbExp=3; IntAct=EBI-3909454, EBI-12190699.
            [SUBCELLULAR LOCATION] Cell membrane; Multi-pass membrane protein.
            Cell junction, gap junction.
            [SIMILARITY] Belongs to the connexin family. Beta-type (group I)
            subfamily. {ECO:0000305}.
FEATURES             Location/Qualifiers
     source          1..273
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
     gene            1..273
                     /gene="GJB5"
     Protein         1..273
                     /product="Gap junction beta-5 protein"
                     /note="Connexin-31.1; Cx31.1"
                     /UniProtKB_evidence="Evidence at protein level"
     Region          1..273
                     /region_name="Mature chain"
                     /note="Gap junction beta-5 protein. /id=PRO_0000057868."
     Region          1..20
                     /region_name="Topological domain"
                     /note="Cytoplasmic. /evidence=ECO:0000255."
     Region          2..209
                     /region_name="Connexin"
                     /note="pfam00029"
                     /db_xref="CDD:459638"
     Region          21..40
                     /region_name="Transmembrane region"
                     /note="Helical. /evidence=ECO:0000255."
     Region          41..75
                     /region_name="Topological domain"
                     /note="Extracellular. /evidence=ECO:0000255."
     Region          76..98
                     /region_name="Transmembrane region"
                     /note="Helical. /evidence=ECO:0000255."
     Region          99..126
                     /region_name="Topological domain"
                     /note="Cytoplasmic. /evidence=ECO:0000255."
     Region          127..149
                     /region_name="Transmembrane region"
                     /note="Helical. /evidence=ECO:0000255."
     Region          150..187
                     /region_name="Topological domain"
                     /note="Extracellular. /evidence=ECO:0000255."
     Region          188..210
                     /region_name="Transmembrane region"
                     /note="Helical. /evidence=ECO:0000255."
     Region          211..273
                     /region_name="Topological domain"
                     /note="Cytoplasmic. /evidence=ECO:0000255."
ORIGIN      
        1 mnwsifegll sgvnkystaf griwlslvfi frvlvylvta ervwsddhkd fdcntrqpgc
       61 snvcfdeffp vshvrlwalq lilvtcpsll vvmhvayrev qekrhreahg ensgrlylnp
      121 gkkrgglwwt yvcslvfkas vdiaflyvfh sfypkyilpp vvkchadpcp nivdcfiskp
      181 sekniftlfm vataaicill nlveliylvs krcheclaar kaqamctghh phgttssckq
      241 ddllsgdlif lgsdshppll pdrprdhvkk til
//
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